TBC1D24 TBC1 domain family member 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBC1D24provided by HGNC
Official Full Name: TBC1 domain family member 24provided by HGNC
Primary source: HGNC:HGNC:29203
See related: Ensembl:ENSG00000162065 MIM:613577; AllianceGenome:HGNC:29203
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EIM; FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC
Summary: This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Expression: Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2475127..2505730)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2497257..2531799)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2525128..2555731)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Title: Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
Title: TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
Title: Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Title: TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Title: Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
Title: Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
Title: TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Title: TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
In a Drosophila model neuronally expressing human TBC1D24, the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, but TBC1D24R360H is benign. The phenotypes of the TBC1D24G501R mutation are consistent with oxidative stress sensitivity, rescued by antioxidants. TLDc domain mutations of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia.
Title: TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Multifocal myoclonus, epilepsia partialis continua (EPC), and fever-induced seizures were the most prominent features of epilepsy patients with TBC1D24 mutations. The best therapeutic strategy to terminate EPC might be using chloral hydrate to induce sleep and control the infection and temperature. Hearing loss and abnormal brain MRIs might exacerbate the condition during follow-up.
Title: Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 65 MedGen: C3892048 OMIM: 616044 GeneReviews: TBC1D24-Related Disorders	Compare labs
Autosomal recessive nonsyndromic hearing loss 86 MedGen: C2829265 OMIM: 614617 GeneReviews: TBC1D24-Related Disorders	Compare labs
Developmental and epileptic encephalopathy, 16 MedGen: C3809173 OMIM: 615338 GeneReviews: TBC1D24-Related Disorders	Compare labs
DOORS syndrome MedGen: C0795934 OMIM: 220500 GeneReviews: TBC1D24-Related Disorders	Compare labs
Familial infantile myoclonic epilepsy MedGen: C0917800 OMIM: 605021 GeneReviews: TBC1D24-Related Disorders	Compare labs
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MedGen: C1842531 OMIM: 608105 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S284 (e-PCR)
- UniSTS:146954

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D16S3309 (e-PCR)
- UniSTS:3861

SHGC-60646 (e-PCR)
- UniSTS:11550

D8S2278 (e-PCR)
- UniSTS:473906

L18426 (e-PCR)
- UniSTS:34648

SHGC-32888 (e-PCR)
- UniSTS:61530

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D2S1254 (e-PCR)
- UniSTS:24950

G35510 (e-PCR)
- UniSTS:44150

RH66407 (e-PCR)
- UniSTS:8583

D16S3014 (e-PCR)
- UniSTS:154266

D16S3309 (e-PCR)
- UniSTS:17315

D3S1673 (e-PCR)
- UniSTS:148450

D5S1597E (e-PCR)
- UniSTS:151019

A009J05 (e-PCR)
- UniSTS:67839

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of peptidyl-cysteine S-nitrosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in terminal bouton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: TBC1 domain family member 24

Names: Infantile myoclonic epilepsy; TBC/LysM-associated domain containing 6; deafness, autosomal dominant 65; skywalker homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028170.1 RefSeqGene

Range

4982..35585

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199107.2 → NP_001186036.1 TBC1 domain family member 24 isoform 1

See identical proteins and their annotated locations for NP_001186036.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB032997, AC093525, AC106820, BC112389

Consensus CDS

CCDS55980.1

UniProtKB/Swiss-Prot

A0JNW3, B9A6M6, Q2KJ08, Q9ULP9

UniProtKB/TrEMBL

A0A2R8Y518

Related

ENSP00000494678.1, ENST00000646147.1

Conserved Domains (2) summary

smart00584
Location:342 → 554

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain
NM_020705.3 → NP_065756.1 TBC1 domain family member 24 isoform 2

See identical proteins and their annotated locations for NP_065756.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC093525, AC106820, BC112389

Consensus CDS

CCDS42107.1

UniProtKB/TrEMBL

A0A2R8Y518

Related

ENSP00000454408.1, ENST00000567020.6

Conserved Domains (2) summary

smart00584
Location:336 → 548

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

2475127..2505730

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017023493.2 → XP_016878982.1 TBC1 domain family member 24 isoform X1

UniProtKB/Swiss-Prot

A0JNW3, B9A6M6, Q2KJ08, Q9ULP9

UniProtKB/TrEMBL

A0A2R8Y518

Conserved Domains (2) summary

smart00584
Location:342 → 554

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain
XM_017023495.2 → XP_016878984.1 TBC1 domain family member 24 isoform X2

UniProtKB/TrEMBL

A0A2R8Y518

Related

ENSP00000455005.2, ENST00000569874.2

Conserved Domains (2) summary

smart00584
Location:336 → 548

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain
XM_047434388.1 → XP_047290344.1 TBC1 domain family member 24 isoform X1

UniProtKB/Swiss-Prot

A0JNW3, B9A6M6, Q2KJ08, Q9ULP9

Related

ENSP00000457896.2, ENST00000562105.2
XM_017023494.2 → XP_016878983.1 TBC1 domain family member 24 isoform X2

UniProtKB/TrEMBL

A0A2R8Y518

Related

ENSP00000494145.1, ENST00000643767.1

Conserved Domains (2) summary

smart00584
Location:336 → 548

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

2497257..2531799

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313528.1 → XP_054169503.1 TBC1 domain family member 24 isoform X1

UniProtKB/Swiss-Prot

A0JNW3, B9A6M6, Q2KJ08, Q9ULP9
XM_054313529.1 → XP_054169504.1 TBC1 domain family member 24 isoform X2